NBS1 variant I171V and breast cancer risk

Breast Cancer Research and Treatment

Volumn 112, Issue 1, 2008, Pages 75-79

  Bogdanova, Natalia ^a,b   Schürmann, Peter ^a   Waltes, Regina ^a   Feshchenko, Sergei ^b   Zalutsky, Iosif Viktorovich ^c   Bremer, Michael ^a   Dörk, Thilo ^a  

^a HANNOVER MEDICAL SCHOOL   (Germany)

^b Republican Scientific Practical Centre Mother and Child   (Belarus)

^c Research Institute of Oncology and Medical Radiology of the Ministry of Health of the Byelorussian SSR   (Belarus)

Author keywords

Breast cancer; I171V mutation; NBS1 gene; Nijmegen breakage syndrome; Radiation sensitivity

Indexed keywords

NIBRIN;

ADULT; ARTICLE; BELARUS; BREAST CANCER; CANCER RISK; CASE CONTROL STUDY; CHROMOSOME BREAKAGE; CONTROLLED STUDY; FAMILY HISTORY; FEMALE; GENETIC VARIABILITY; GERMANY; HUMAN; LARYNX CANCER; LEUKEMIA; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NIJMEGEN BREAKAGE SYNDROME; ONSET AGE; POLAND; PREVALENCE; PRIORITY JOURNAL; RADIOSENSITIVITY;

BREAST NEOPLASMS; CASE-CONTROL STUDIES; CELL CYCLE PROTEINS; DNA, NEOPLASM; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; GERMANY; HUMANS; MIDDLE AGED; MUTATION, MISSENSE; NUCLEAR PROTEINS; POLYMERASE CHAIN REACTION; RISK FACTORS;

EID: 52949091170     PISSN: 01676806     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10549-007-9820-4     Document Type: Article

References (31)

1. J Kobayashi A Antoccia H Tauchi 2004 NBS1 and its functional role in the DNA damage response DNA Repair 3 855 861
2. M Digweed K Sperling 2004 Nijmegen breakage syndrome: clinical manifestation of defective response to DNA double-strand breaks DNA Repair 3 1207 1214
3. J Falck J Coates SP Jackson 2005 Conserved modes of recruitment of ATM, ATR and DNA-PKcs to sites of DNA damage Nature 434 605 611
4. J-H Lee D-S Lim 2006 Dual role of Nbs1 in the ataxia-telangiectasia mutated-dependent DNA damage response FEBS Lett 273 1630 1636
5. I van der Burgt KH Chrzanowska D Smeets C Weemaes 1996 Nijmegen breakage syndrome J Med Genet 33 153 156
6. R Varon C Vissinga M Platzer 1998 Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome Cell 93 467 476
7. E Seemanová 1990 An increased risk for malignant neoplasms in heterozygotes for a syndrome of microcephaly, normal intelligence, growth retardation, remarkable facies, immunodeficiency and chromosomal instability Mutat Res 238 321 324
8. E Seemanová P Jarolim P Seeman 2006 Increased risk of malignancies in heterozygotes in families of patients with Nijmegen breakage syndrome Cas Lek Cesk 145 138 143
9. R Varon E Seemanova K Chrzanowska 2000 Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657del5, in three Slav populations Eur J Hum Genet 8 900 902
10. B Gorski T Debniak B Masojc 2003 Germline 657del5 mutation in the NBS1 gene in breast cancer patients Int J Cancer 106 379 381
11. J Steffen R Varon M Mosor 2004 Increased cancer risk of heterozygotes with NBS1 germline mutations in Poland Int J Cancer 111 67 71
12. KB Buslov AG Iyevleva EV Chekmariova 2005 NBS1 657del5 mutation may contribute only to a limited fraction of breast cancer cases in Russia Int J Cancer 114 585 589
13. B Gorski C Cybulski T Huzarski 2005 Breast cancer predisposing alleles in Poland Breast Cancer Res Treat 92 19 24
14. J Steffen D Nowakowska A Niwinska 2006 Germline mutations 657del5 of the NBS1 gene contribute significantly to the incidence of breast cancer in Central Poland Int J Cancer 119 472 475
15. Bogdanova N, Feshchenko S, Schürmann P et al (2007) Nijmegen Breakage Syndrome mutations and risk of breast cancer. Int J Cancer. doi: 10.1002/ijc.23168 (Oct 23, 2007)
16. T Walsh MC King 2007 Ten genes for inherited breast cancer Cancer Cell 11 103 105
17. B Kuschel A Auranen S McBride 2002 Variants in DNA double-strand break repair genes and breast cancer susceptibility Hum Mol Genet 11 1399 1407
18. A Forsti S Angelini F Festa 2004 Single nucleotide polymorphisms in breast cancer Oncol Rep 11 917 922
19. RC Millikan JS Player AR Decotret 2005 Polymorphisms in DNA repair genes, medical exposure to ionizing radiation, and breast cancer risk Cancer Epidemiol Biomarkers Prev 14 2326 2334
20. L Zhang Z Zhang W Yan 2005 Single nucleotide polymorphisms for DNA repair genes in breast cancer patients Clin Chim Acta 359 150 155
21. Rożnowski K, Januszkiewicz-Lewandowska D, Mosor M et al (2007) I171V germline mutation in the NBS1 gene significantly increases risk of breast cancer. Breast Cancer Res Treat. doi: 10.1007/s10549-007-9734-1 (Sep 26, 2007)
22. R Varon A Reis G Henze 2001 Mutations in the Nijmegen Breakage Syndrome gene (NBS1) in childhood acute lymphoblastic leukemia (ALL) Cancer Res 61 3570 3572
23. M Mosor I Ziółkowska M Pernak-Schwarz 2006 Association of the heterozygous germline I171V mutation of the NBS1 gene with childhood acute lymphoblastic leukaemia Leukemia 20 1454 1456
24. I Ziółkowska M Mosor M Wierzbicka 2007 Increased risk of larynx cancer in heterozygous carriers of the I171V mutation of the NBS1 gene Cancer Sci 98 1701 1705
25. J Backe S Hofferbert B Skawran 1999 Frequency of BRCA1 mutation 5382insC in German breast cancer patients Gynecol Oncol 72 402 406
26. The CHEK2 Breast Cancer Case-Control Consortium 2004 CHEK2*1100delC and susceptibility to breast cancer: a collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies Am J Hum Genet 74 1175 1182
27. T Dörk R Bendix M Bremer 2001 Spectrum of ATM gene mutations in a hospital-based series of unselected breast cancer patients Cancer Res 61 7608 7615
28. A Cox AM Dunning M Garcia-Closas 2007 A common coding variant in CASP8 is associated with breast cancer risk Nat Genet 39 352 358
29. DF Easton KA Pooley AM Dunning 2007 A genome-wide association study identifies novel breast cancer susceptibility loci Nature 447 1087 1093
30. N Bogdanova N Enßen-Dubrowinskaja S Festchenko 2005 Association of two mutations in the CHEK2 gene with breast cancer Int J Cancer 116 263 266
31. N Bogdanova S Feshchenko C Cybulski T Dörk 2007 CHEK2 mutation and hereditary breast cancer J Clin Oncol 25 19 e26